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Jackson Stormes was diagnosed with Dravet Syndrome in 2009, after receiving genetic testing for the SCN1A mutation.

Read the Backstory: Jackson Stormes Journey

Prior to the genetic testing, Jaxs had a diagnosis of “medically refractory, idiopathic, cryptogenic epilepsy”. This is a fancy way for the doctors to say that they “do not know what is causing his seizures, nor do they know how to treat his seizures because they are not responding to the medications or to other medical interventions.” Jackson has suffered from these seizures since October 21, 1999 (4.5 months old). His second seizure was on November 3, 1999, when he was taking his first narcotic medication in an attempt to control his seizures.

Jackson is being followed by Dr. Eric Segal at the Northeast Regional Epilepsy Group in Hackensack, NJ. Since 2009, Jackson has met with Dr. Charlotte Dravet1 from France and Dr. Ian Miller2 from Miami Children’s Hospital and the Brain Institute in Miami, FL.

Signs and Symptoms associated with Dravet Syndrome

There are many signs and symptoms accompanying the diagnosis of Dravet Syndrome.3 The presentation of Dravet can be life altering and will affect many areas of functioning and abilities. The challenges can vary from one child to another.

Jackson suffers from the following:

  • Neurological Dysfunction with frequent seizures
  • Cognitive Delays
  • Expressive Language Speech Delays
  • Dysautonomia: difficulties regulating body temperature & breathing irregularities while sleeping
  • Autistic-like characteristics and behaviors
  • ADD/ADHD Combined Form
  • Sensory Integration Disorder
  • Ataxia
  • Orthopedic issues with awkward gait and flat feet
  • Possible Cardiac issues from the repeated seizures and work load on the heart
  • Brain injury related to the ongoing seizures   
  • Inability to recognize danger or to care for himself  
  • Side effects of medications including lethargy, drowsiness, and aggressive behaviors

Currently (2016) Jackson is taking only one pharmaceutical at a very low dose for his age and weight since beginning the CBD treatment. The past 15 years of pharmaceutical medications and treatments have been ineffective in controlling his almost daily seizure activity. In November 2011, the insurance company, through the EPSDT/Medicaid approved a medication approved for use in Europe, which has shown efficacy in the treatment of Dravet children: stiripentol.4 The approval was based on compassionate use since there are no effective pharmacological treatments available in the United States that are FDA approved. With the addition of the stiripentol, along with other FDA approved medications, treatment has proven to also be ineffective. Jaxs still suffers from seizures. He has been benzodiazepine free since November 18, 2013 and barbiturate free since Feb, 2013.

Current list of medication Jackson is currently taking:

  • CBD 20:1
  • Diamox

Progress with CBD Treatment:

In November 2012, Jaxs medicine cocktail began to include a trial of CBD rich butter.

Over the years, dosing has increased and he is beginning to show signs of cognitive improvements, lessened seizure intensity and quicker recovery from seizure events. VEEG background is now showing normal, without slowing or spike waves. He has been completely titrated off phenobarbital (highly addictive barbiturate), Klonopin (highly addictive benzodiazepine), Onfi (highly addictive benzodiazepine), Stiripentol, and a decrease in depakote by 50%. Jaxs is also no longer on a ketogenic diet, with 5 additional nutritional supplements.

Despite all the medications and limitations, Jackson has the ability to wake up every morning with a smile and a warm greeting: “Good Morning Mom!”

As a nurse, and Jackson’s mother, I am blessed with this greeting even on the mornings when he has seizures before waking up; sometimes he has 10+ seizures between 2 am and 6 am and still wakes with a smile and willingness to tackle the day.  He is the inspiration and sunshine which empowers me to continue each day to fight for his needs. Jaxs inspires me to request access to appropriate medical care, and hope for the future, that he will live the happiest and best life possible.

Medications and Treatments Tried-and-Failed before Cannabis:

Surgical Interventions:

Current Treatments and Options for Dravet Syndrome

There is currently no known cure for Dravet Syndrome.

Some children with Dravet Syndrome have achieved seizure control with a pharmacological medications or treatments. The same approach may not work for another child.

There are currently 3 treatments options for children diagnosed with Dravet Syndrome

  • Ketogenic diet with medications available in the United States5.
  • Stiripentol (FDA-Orphan Drug Status) used in conjunction with Depakote and Onfi6  
  • CBD rich medication cultivated from the medicinal marijuana plants.7

Research continues and Dravet non-profit organizations are taking great steps to organize parents and professionals to continue in the pursuit of answers for our children to improve their quality of life.

References
  1. Charlotte Dravet, MD
  2. Ian Miller,MD
  3. Signs and Symptoms of Dravet
  4. Stiripentol Medication
  5. Caraballo RH, Cersósimo RO, Sakr D, Cresta A, Escobal N, Fejerman N. Ketogenic diet for Patients with Dravet
  6. FDA-Orphan Drug
  7. Epidiolex FDA approved drug
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